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Year Number of Results
2003 1
2011 2
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2014 3
2015 2
2016 4
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2019 1
2020 3
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2024 0

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23 results

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Page 1
Macrophage migration inhibitory factor in Nodding syndrome.
Benedek G, Abed El Latif M, Miller K, Rivkin M, Ahmed Ramadhan Lasu A, P Riek L, Lako R, Edvardson S, Arbel-Alon S, Galun E, Levite M. Benedek G, et al. Among authors: edvardson s. PLoS Negl Trop Dis. 2021 Oct 18;15(10):e0009821. doi: 10.1371/journal.pntd.0009821. eCollection 2021 Oct. PLoS Negl Trop Dis. 2021. PMID: 34662363 Free PMC article.
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. Among authors: shimon e. Genet Med. 2020 Oct;22(10):1598-1605. doi: 10.1038/s41436-020-0833-2. Epub 2020 May 28. Genet Med. 2020. PMID: 32461667 Free PMC article.
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.
Confino S, Dor T, Tovin A, Wexler Y, Ben-Moshe Livne Z, Kolker M, Pisanty O, Park SK, Geyer N, Reiter J, Edvardson S, Mor-Shaked H, Elpeleg O, Vallone D, Appelbaum L, Foulkes NS, Gothilf Y. Confino S, et al. Among authors: edvardson s. Int J Mol Sci. 2022 Feb 21;23(4):2373. doi: 10.3390/ijms23042373. Int J Mol Sci. 2022. PMID: 35216494 Free PMC article.
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Sheffer R, Gur M, Brooks R, Salah S, Daana M, Fraenkel N, Eisenstein E, Rabie M, Nevo Y, Jalas C, Elpeleg O, Edvardson S, Harel T. Sheffer R, et al. Among authors: edvardson s. Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11. Eur J Hum Genet. 2019. PMID: 30976113 Free PMC article.
Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove.
Benedek G, Abed El Latif M, Miller K, Rivkin M, Ramadhan Lasu AA, Riek LP, Lako R, Edvardson S, Alon SA, Galun E, Levite M. Benedek G, et al. Among authors: edvardson s. PLoS Negl Trop Dis. 2020 Jul 8;14(7):e0008436. doi: 10.1371/journal.pntd.0008436. eCollection 2020 Jul. PLoS Negl Trop Dis. 2020. PMID: 32639997 Free PMC article.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J; DDD study; Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group; Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ. Lessel D, et al. Among authors: edvardson s. Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014. Am J Hum Genet. 2017. PMID: 29100085 Free PMC article.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, The Ddd Study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group; Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ. Lessel D, et al. Among authors: edvardson s. Am J Hum Genet. 2018 Jan 4;102(1):196. doi: 10.1016/j.ajhg.2017.12.016. Am J Hum Genet. 2018. PMID: 29304375 Free PMC article. No abstract available.
23 results